Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants - Normandie Université Access content directly
Journal Articles Molecular Genetics & Genomic Medicine Year : 2017

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants

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hal-02336138 , version 1 (28-10-2019)

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Pascaline Gaildrat, Saïd Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, et al.. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. Molecular Genetics & Genomic Medicine, 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩. ⟨hal-02336138⟩
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